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Aliases for LEMD3 Gene

Aliases for LEMD3 Gene

  • LEM Domain Containing 3 2 3
  • MAN1 3 4 6
  • LEM Domain-Containing Protein 3 3 4
  • Integral Inner Nuclear Membrane Protein 3
  • Inner Nuclear Membrane Protein Man1 3

External Ids for LEMD3 Gene

Previous GeneCards Identifiers for LEMD3 Gene

  • GC12P063850
  • GC12P065563
  • GC12P062615

Summaries for LEMD3 Gene

Entrez Gene Summary for LEMD3 Gene

  • This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

GeneCards Summary for LEMD3 Gene

LEMD3 (LEM Domain Containing 3) is a Protein Coding gene. Diseases associated with LEMD3 include buschke-ollendorff syndrome and melorheostosis with osteopoikilosis. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is LEMD2.

UniProtKB/Swiss-Prot for LEMD3 Gene

  • Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEMD3 Gene

Genomics for LEMD3 Gene

Regulatory Elements for LEMD3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LEMD3 Gene

Start:
65,169,571 bp from pter
End:
65,248,361 bp from pter
Size:
78,791 bases
Orientation:
Plus strand

Genomic View for LEMD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LEMD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEMD3 Gene

Proteins for LEMD3 Gene

  • Protein details for LEMD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2U8-MAN1_HUMAN
    Recommended name:
    Inner nuclear membrane protein Man1
    Protein Accession:
    Q9Y2U8
    Secondary Accessions:
    • Q9NT47
    • Q9NYA5

    Protein attributes for LEMD3 Gene

    Size:
    911 amino acids
    Molecular mass:
    99997 Da
    Quaternary structure:
    • Interacts with SMAD1, SMAD2, SMAD3 and SMAD5. Binds to both phosphorylated and unphosphorylated R-SMADS.

    Three dimensional structures from OCA and Proteopedia for LEMD3 Gene

neXtProt entry for LEMD3 Gene

Proteomics data for LEMD3 Gene at MOPED

Post-translational modifications for LEMD3 Gene

  • Ubiquitination at Lys787
  • Modification sites at PhosphoSitePlus

Other Protein References for LEMD3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LEMD3 Gene

Domains for LEMD3 Gene

Suggested Antigen Peptide Sequences for LEMD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2U8

UniProtKB/Swiss-Prot:

MAN1_HUMAN :
  • Q9Y2U8
Domain:
  • Contains 1 LEM domain.
genes like me logo Genes that share domains with LEMD3: view

No data available for Gene Families for LEMD3 Gene

Function for LEMD3 Gene

Molecular function for LEMD3 Gene

UniProtKB/Swiss-Prot Function: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

Gene Ontology (GO) - Molecular Function for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15647271
genes like me logo Genes that share ontologies with LEMD3: view
genes like me logo Genes that share phenotypes with LEMD3: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LEMD3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for LEMD3 Gene

Localization for LEMD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEMD3 Gene

Nucleus inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LEMD3 Gene COMPARTMENTS Subcellular localization image for LEMD3 gene
Compartment Confidence
nucleus 5
plasma membrane 3
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope --
GO:0005637 nuclear inner membrane IDA 15647271
GO:0005639 integral component of nuclear inner membrane IEA --
GO:0016020 membrane TAS 10671519
GO:0016021 integral component of membrane IDA 10671519
genes like me logo Genes that share ontologies with LEMD3: view

Pathways for LEMD3 Gene

genes like me logo Genes that share pathways with LEMD3: view

Pathways by source for LEMD3 Gene

1 GeneGo (Thomson Reuters) pathway for LEMD3 Gene

Gene Ontology (GO) - Biological Process for LEMD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis --
GO:0002044 blood vessel endothelial cell migration involved in intussusceptive angiogenesis IEA --
GO:0006997 nucleus organization IEA --
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IDA 15647271
GO:0030514 negative regulation of BMP signaling pathway IDA 15647271
genes like me logo Genes that share ontologies with LEMD3: view

Transcripts for LEMD3 Gene

Unigene Clusters for LEMD3 Gene

LEM domain containing 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LEMD3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for LEMD3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LEMD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: -
SP2:

Relevant External Links for LEMD3 Gene

GeneLoc Exon Structure for
LEMD3
ECgene alternative splicing isoforms for
LEMD3

Expression for LEMD3 Gene

mRNA expression in normal human tissues for LEMD3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LEMD3 Gene

SOURCE GeneReport for Unigene cluster for LEMD3 Gene Hs.744150

mRNA Expression by UniProt/SwissProt for LEMD3 Gene

Q9Y2U8-MAN1_HUMAN
Tissue specificity: Heart, brain, placenta, lung, liver and skeletal muscle
genes like me logo Genes that share expressions with LEMD3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LEMD3 Gene

Orthologs for LEMD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LEMD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LEMD3 35
  • 99.74 (n)
  • 99.89 (a)
LEMD3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LEMD3 35
  • 92.85 (n)
  • 93.18 (a)
LEMD3 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LEMD3 35
  • 88.53 (n)
  • 86.83 (a)
LEMD3 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lemd3 35
  • 86.23 (n)
  • 86.57 (a)
Lemd3 16
Lemd3 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LEMD3 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lemd3 35
  • 86.5 (n)
  • 86.58 (a)
chicken
(Gallus gallus)
Aves LEMD3 35
  • 80.45 (n)
  • 82.05 (a)
LEMD3 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LEMD3 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia XMAN1 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lemd3 35
  • 66.82 (n)
  • 67.23 (a)
zebrafish
(Danio rerio)
Actinopterygii lemd3 35
  • 64.46 (n)
  • 67.15 (a)
lemd3 36
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lem-2 36
  • 20 (a)
OneToOne
Species with no ortholog for LEMD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LEMD3 Gene

ENSEMBL:
Gene Tree for LEMD3 (if available)
TreeFam:
Gene Tree for LEMD3 (if available)

Paralogs for LEMD3 Gene

Paralogs for LEMD3 Gene

genes like me logo Genes that share paralogs with LEMD3: view

Variants for LEMD3 Gene

Sequence variations from dbSNP and Humsavar for LEMD3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2888 -- 65,248,205(-) TTGCA(A/G)GGAGG utr-variant-3-prime
rs12071 -- 65,248,226(-) TTATA(C/T)ACATT utr-variant-3-prime
rs736161 -- 65,169,501(+) CCCGC(A/G)GCGCT upstream-variant-2KB
rs904411 -- 65,170,257(+) ACGAG(C/G)AAGGG missense, reference
rs969785 -- 65,188,668(-) AAGAT(G/T)GAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LEMD3 Gene

Variant ID Type Subtype PubMed ID
nsv832445 CNV Gain 17160897
nsv522671 CNV Loss 19592680

Relevant External Links for LEMD3 Gene

HapMap Linkage Disequilibrium report
LEMD3
Human Gene Mutation Database (HGMD)
LEMD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEMD3 Gene

Disorders for LEMD3 Gene

(2) OMIM Diseases for LEMD3 Gene (607844)

UniProtKB/Swiss-Prot

MAN1_HUMAN
  • Buschke-Ollendorff syndrome (BOS) [MIM:166700]: A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. {ECO:0000269 PubMed:15489854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Melorheostosis (MEL) [MIM:155950]: Rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for LEMD3 Gene

(6) Novoseek inferred disease relationships for LEMD3 Gene

Disease -log(P) Hits PubMed IDs
buschke-ollendorff syndrome 89.9 4
osteopoikilosis 84.9 3
muscular dystrophy emery-dreifuss 84.2 2
melorheostosis 76.8 2
bone dysplasias 67.1 2

Relevant External Links for LEMD3

Genetic Association Database (GAD)
LEMD3
genes like me logo Genes that share disorders with LEMD3: view

Publications for LEMD3 Gene

  1. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. (PMID: 10671519) Lin F. … Worman H.J. (J. Biol. Chem. 2000) 2 3 4 23
  2. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. (PMID: 15601644) Lin F. … Worman H.J. (Hum. Mol. Genet. 2005) 3 4 23
  3. The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. (PMID: 15647271) Pan D. … Luo K. (J. Biol. Chem. 2005) 3 4 23
  4. The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain. (PMID: 16648637) Caputo S. … Zinn-Justin S. (J. Biol. Chem. 2006) 3 4 23
  5. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. (PMID: 15489854) Hellemans J. … Mortier G.R. (Nat. Genet. 2004) 2 3 4

Products for LEMD3 Gene

Sources for LEMD3 Gene

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